Phenotypic expansion illuminates multilocus pathogenic variation

Karaca E., Posey J. E., Akdemir Z. C., Pehlivan D., Harel T., Jhangiani S. N., ...Daha Fazla

GENETICS IN MEDICINE, cilt.20, sa.12, ss.1528-1537, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 12
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1038/gim.2018.33
  • Dergi Adı: GENETICS IN MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1528-1537
  • Çukurova Üniversitesi Adresli: Evet

Özet

Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in association with a "known" disease gene.